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Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.
J Clin Endocrinol MetabHoff FW +5 more
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Mental Retardation and Developmental Disabilities Research Reviews, 2003
AbstractDeafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific ...
exaly +3 more sources
AbstractDeafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific ...
exaly +3 more sources
, 2022
This volume lays out the practical steps families can take to adjust to a loved one's hearing loss. The book shows how the exchange of information can be altered at fundamental levels, what these alterations entail, and how they can affect one's ability ...
Owen Wrigley
semanticscholar +1 more source
This volume lays out the practical steps families can take to adjust to a loved one's hearing loss. The book shows how the exchange of information can be altered at fundamental levels, what these alterations entail, and how they can affect one's ability ...
Owen Wrigley
semanticscholar +1 more source
Veterinary Clinics of North America - Small Animal Practice, 2012 Conductive deafness, caused by outer or middle ear obstruction, may be corrected, whereas sensorineural deafness cannot. Most deafness in dogs is congenital sensorineural hereditary deafness, associated with the genes for white pigment: piebald or merle.
George M Strain
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Connexin-26 mutations in sporadic and inherited sensorineural deafness
Lancet, The, 1998 BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in
Raquel Rabionet +2 more
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Deafness and Attention in Deaf Children
American Annals of the Deaf, 2006The study shows the differences between hearing parents and deaf instructors interacting with deaf children and directing their attention. Data were collected at home and at a service for special needs in Bristol, England. The mother or instructor was asked to play naturally with the child with the toys provided. When the child's attention was focused
Ana Cristina, Guarinello +3 more
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Deaf Epistemology: Deafhood and Deafness
American Annals of the Deaf, 2010Deaf epistemology constitutes the nature and extent of the knowledge that deaf individuals acquire growing up in a society that relies primarily on audition to navigate life. Deafness creates beings who are more visually oriented compared to their auditorily oriented peers.
Peter C, Hauser +4 more
openaire +2 more sources